Canonical Allele Identifier: CA344942832

Gene: TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235600756C>A (hg19) ; chr1:g.235437441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235437441C>A , CM000663.2:g.235437441C>A	GRCh38
NC_000001.10:g.235600756C>A , CM000663.1:g.235600756C>A	GRCh37
NC_000001.9:g.233667379C>A	NCBI36
NG_009230.1:g.75029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.894C>A	ENSP00000355560.4:p.Ser298Arg
ENST00000406207.5:c.1083C>A	ENSP00000384571.1:p.Ser361Arg
ENST00000472011.6:n.1807C>A
ENST00000543662.4:c.1236C>A	ENSP00000439170.1:p.Ser412Arg
ENST00000642339.1:c.*780C>A	ENSP00000495425.1:n.*780C>A
ENST00000642431.1:c.1660C>A
ENST00000642463.1:c.*981C>A	ENSP00000495007.1:n.*981C>A
ENST00000642503.1:c.*857C>A	ENSP00000494334.1:n.*857C>A
ENST00000642610.2:c.1083C>A MANE Select	ENSP00000494796.1:p.Ser361Arg
ENST00000642764.1:n.1914C>A
ENST00000643125.1:c.*98C>A	ENSP00000494102.1:n.*98C>A
ENST00000643142.1:c.*574C>A	ENSP00000494755.1:n.*574C>A
ENST00000643238.1:c.*103C>A	ENSP00000495916.1:n.*103C>A
ENST00000643410.1:c.*373C>A	ENSP00000495030.1:n.*373C>A
ENST00000643487.1:n.1770C>A
ENST00000643524.1:c.*668C>A	ENSP00000494026.1:n.*668C>A
ENST00000643615.1:c.*1083C>A	ENSP00000496103.1:n.*1083C>A
ENST00000643993.1:n.1219C>A
ENST00000643994.1:c.*1083C>A	ENSP00000496322.1:n.*1083C>A
ENST00000644037.1:c.*1293C>A	ENSP00000496408.1:n.*1293C>A
ENST00000644055.1:c.*1708C>A	ENSP00000496307.1:n.*1708C>A
ENST00000644126.1:n.2755C>A
ENST00000644217.1:c.1083C>A	ENSP00000494646.1:p.Ser361Arg
ENST00000644265.1:c.452C>A
ENST00000644578.1:c.897C>A	ENSP00000495953.1:p.Ser299Arg
ENST00000644604.1:c.1083C>A	ENSP00000495961.1:p.Ser361Arg
ENST00000644680.1:c.*1604C>A	ENSP00000496173.1:n.*1604C>A
ENST00000644838.1:c.*466C>A	ENSP00000495910.1:n.*466C>A
ENST00000644910.1:c.1690C>A
ENST00000645205.1:c.1083C>A	ENSP00000495823.1:p.Ser361Arg
ENST00000645351.1:c.1083C>A	ENSP00000494319.1:p.Ser361Arg
ENST00000645551.1:c.*800C>A	ENSP00000495928.1:n.*800C>A
ENST00000645578.1:c.*857C>A	ENSP00000496495.1:n.*857C>A
ENST00000645582.1:c.*913C>A	ENSP00000494980.1:n.*913C>A
ENST00000645655.1:c.1083C>A	ENSP00000495202.1:p.Ser361Arg
ENST00000645662.1:c.*542C>A	ENSP00000495964.1:n.*542C>A
ENST00000645836.1:c.*857C>A	ENSP00000493915.1:n.*857C>A
ENST00000645899.1:c.1083C>A	ENSP00000496773.1:p.Ser361Arg
ENST00000645964.1:c.*949C>A	ENSP00000494208.1:n.*949C>A
ENST00000646104.1:c.*1551C>A	ENSP00000495475.1:n.*1551C>A
ENST00000646186.1:c.*755C>A	ENSP00000493806.1:n.*755C>A
ENST00000646281.1:c.1083C>A	ENSP00000495225.1:p.Ser361Arg
ENST00000646286.1:c.*976C>A	ENSP00000494291.1:n.*976C>A
ENST00000646463.1:c.*848C>A	ENSP00000494541.1:n.*848C>A
ENST00000646528.1:c.*1799C>A	ENSP00000496553.1:n.*1799C>A
ENST00000646536.1:c.*373C>A	ENSP00000494801.1:n.*373C>A
ENST00000646624.1:c.1083C>A	ENSP00000494575.1:p.Ser361Arg
ENST00000646821.1:c.*373C>A	ENSP00000495257.1:n.*373C>A
ENST00000646842.1:n.527C>A
ENST00000646848.1:c.*298C>A	ENSP00000495831.1:n.*298C>A
ENST00000647186.1:c.1083C>A	ENSP00000494775.1:p.Ser361Arg
ENST00000647233.1:n.2063C>A
ENST00000647322.1:c.674C>A
ENST00000647418.1:c.*857C>A	ENSP00000493552.1:n.*857C>A
ENST00000647428.1:c.744C>A	ENSP00000495630.1:p.Ser248Arg
ENST00000651186.1:c.744C>A	ENSP00000498645.1:p.Ser248Arg
ENST00000366601.7:c.1083C>A	ENSP00000355560.3:p.Ser361Arg
ENST00000406207.4:c.1083C>A	ENSP00000384571.1:p.Ser361Arg
ENST00000472011.5:n.1135C>A
ENST00000543662.3:c.1236C>A	ENSP00000439170.1:p.Ser412Arg
NM_001079515.2:c.1083C>A	NP_001072983.1:p.Ser361Arg
NM_001287801.1:c.1236C>A	NP_001274730.1:p.Ser412Arg
NM_001287802.1:c.744C>A	NP_001274731.1:p.Ser248Arg
NM_003193.4:c.1083C>A	NP_003184.1:p.Ser361Arg
NM_003193.5:c.1083C>A MANE Select	NP_003184.1:p.Ser361Arg
NM_001079515.3:c.1083C>A	NP_001072983.1:p.Ser361Arg
NM_001287801.2:c.1236C>A	NP_001274730.1:p.Ser412Arg
NM_001287802.2:c.744C>A	NP_001274731.1:p.Ser248Arg